Developing a cell-based approach for the treatment of aniridia related keratopathy (A non-inflammatory disease of the cornea).

The Lauderdale lab is investigating the role that the PAX6 gene plays in maintaining the cornea and how it can be used to treat aniridia related keratopathy (ARK). The PAX6 gene is needed for both the formation and maintenance of the cornea, particularly the corneal epithelium. The corneal epithelium can be thought of as a specialized form of skin. Like our skin, cells in the corneal epithelium are constantly being lost and replaced as part of its normal function. A specialized group of cells, called limbal stem cells, are responsible for generating the new cells that are used to replace the cells in the corneal epithelial layer. These cells are located in the region of the eye where the clear part of the cornea meets the white part of the eye. Loss or damage to these limbal stem cells results in problems in the body’s ability to maintain the corneal epithelial layers, and is the cause of the corneal diseases known as keratopathy..

Dr. Lauderdale’s research team are working on developing a cell based method for the treatment of aniridia related keratopathy using a person’s own cells. The goal is to develop a method that is well tolerated in children and can be used to maintain vision during the person’s lifetime. Aniridia related keratopathy results from a decrease in the amount of PAX6 protein in the limbal stem cells and the cells that are produced by these cells. Their approach is to take a small sample of limbal cells from the individual with aniridia and then in the laboratory add back a functional copy of the PAX6 gene. These cells would then be grown on a substrate, such as a contact lens, that would allow the cells to be reintroduced into the patient’s eyes.

Per Dr. Laurderdale on January, 4, 2022, they are continuing to work on a cell-based approach. His statement was that, “while a drug-based approach has much to recommend it, the more approaches available the better from a treatment perspective. Our primary goal for 2020-2021 was to develop a culture system capable of reliably producing the types of cells that could rebuild the cornea. The hope is these cells can provide long-term restoration of the ocular surface. Our current evidence indicates that we have a system that can reliably produce the cells we want. Our current efforts are directed towards assessing how well these cells can restore the ocular surface and to test how well we can produce cells under the conditions needed to produce cells destined for human use.”